Oxford Medical Case Reports最新文献

Abnormal central venous anatomy can obstruct cardiac-device implantation. We report a 54-year-old patient found to be in complete heart-block after identification of profound bradycardia, requiring cardiac-pacing. Echocardiography revealed systolic dysfunction, prompting a plan for cardiac resynchronization therapy. Conventional lead placement was impossible due to failed guide-wire advancement bilaterally. Peri-procedural venography demonstrated attenuation of both brachiocephalic veins and contrast-enhanced computed tomography confirmed complete central venous occlusion (CVO). Further history identified previous chemotherapy delivered via central venous catheters, as the likely aetiology for the CVO and systolic dysfunction. Alternative pacing options were considered. Ultimately the leadless Micra-AV-pacemaker was successfully implanted via the femoral vein with good clinical recovery. This unique case highlights CVO as an obstacle to cardiac-device implantation, with specific patients at increased risk. Pre-procedural imaging in those at-risk may reduce procedure failure and facilitate appropriate device strategy choice. Leadless pacing provides a safe, effective alternative in cases of CVO.

Waldenström's Macroglobulinemia (WM) is a lymphoplasmacytic lymphoma which can rarely transform into diffuse large B cell lymphoma (DLBCL). Usually, the diagnosis of WM precedes DLBCL. A 79-year-old male presented to the hospital for worsening dysphagia and shortness of breath due to a rapidly growing base of tongue mass detected by CT scan. The mass was thought initially to be isolated DLBCL, though incidentally, markedly elevated IgM titers were noted. Biopsy of bone marrow and mass were consistent with histological transformation of WM to DLBCL. Response to treatment was assessed by the size of tongue mass on interval CT scans and IgM levels, both of which responded rapidly to chemotherapy. However, the patient developed early CNS relapse, consistent with the overall poor prognosis of transformed WM.

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder characterized by the development of benign tumors in multiple organs. This report presents an unusual case of early-onset renal cystic disease in a 1-year-old male with TSC, despite the absence of detectable mutations in the TSC1 or TSC2 genes. Postnatal imaging revealed bilateral polycystic kidney disease by 2 months of age. The patient presented with secondary hypertension and seizures. Neuroimaging confirmed cortical tubers and a subependymal giant cell astrocytoma (SEGA), while echocardiography identified cardiac rhabdomyomas. Despite these clinical findings, genetic testing failed to detect mutations in the TSC1 or TSC2 genes. This case highlights the importance of considering TSC as a potential diagnosis in cases of early-onset renal cystic disease, even in the absence of detectable TSC gene mutations. Additionally, the case emphasizes the risk of severe renal involvement in TSC, necessitating early recognition and management.

Background: Pulmonary siderosis (PS), or welder's lung, is an occupational lung disease caused by chronic inhalation of iron dust or fumes. Unlike other pneumoconioses, it typically follows a benign course without significant fibrosis, though prolonged exposure may lead to respiratory complications.

Case presentation: A 44-year-old male welder presented with progressive dyspnea (mMRC grade 3), reduced exercise tolerance, and a history of recurrent chest infections. Diagnostic evaluations, including imaging and pulmonary function tests, were conducted to assess his condition. Findings suggested siderotic lung disease superimposed on welder's pneumoconiosis, with potential systemic iron overload.

Conclusion: A thorough occupational history is critical to avoid misdiagnosis in suspected siderosis cases. Clinicians should consider systemic iron overload in affected welders and monitor for potential fibrotic progression. Further research is needed to clarify the relationship between iron oxide exposure and lung fibrosis, underscoring the importance of occupational safety measures in high-risk industries.

Cardiac perforation is a rare but life-threatening complication of transcatheter cardiac procedures, particularly in children where tissue fragility increases risk. We present a rare case of iatrogenic right ventricular perforation during transcatheter ventricular septal defect closure in a pediatric patient. During the procedure, inadvertent withdrawal of the Terumo guidewire caused perforation of the right ventricular apex, leading to cardiac tamponade and cardiopulmonary arrest. Emergency pericardiocentesis with pigtail catheter placement and autotransfusion restored hemodynamic stability, after which transcatheter repair was selected over surgical intervention due to the patient's critical condition. An 8 mm Shanghai Shape Memory Alloy occluder was successfully deployed to seal the perforation, resulting in complete hemostasis and a stable recovery. This case highlights that transcatheter device closure can serve as a life-saving alternative to emergent surgery for iatrogenic cardiac perforations in children, offering a minimally invasive solution in high-risk scenarios.

Background: Polyglucosan body myopathy is a type of glycogen storage disease characterized by abnormal glycogen structure formation. Progressive heart failure is the primary cause of mortality in affected patients.

Case summary: Here, we present a rare case of an Azeri teenage boy with advanced, decompensated heart failure associated with a novel sporadic variant mutation in the RBCK1 gene, displaying a polyglucosan body myopathy phenotype. Following multidisciplinary consensus, the patient underwent successful heart transplantation, resulting in discharge two weeks post-transplantation and excellent health at a one-year follow-up.

Discussion: Heart transplantation represents the ultimate treatment option for patients with advanced heart failure and increased mortality risk. It remains a viable and beneficial strategy, even for those with cardiomyopathy secondary to multi-organ diseases.

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome caused by mutations in the NF1 gene encoding neurofibromin, leading to an increased risk of benign and malignant tumors, including pheochromocytomas and rare cancers such as cholangiocarcinoma (CCA). We report a novel case of a 45-year-old NF1 patient who underwent adrenalectomy for pheochromocytoma at age 30 and was later diagnosed with CCA during evaluation for chest pain. Imaging revealed hepatic lesions confirmed by biopsy and molecular analysis showing an IDH1 mutation, providing a potential therapeutic target. This metachronous presentation of two rare tumors in an NF1 patient is exceptionally uncommon and has not been previously documented in the literature. The patient was treated with combined chemotherapy and immunotherapy, showing stable disease at three-month follow-up. This case highlights the importance of vigilant long-term surveillance in NF1 patients and the role of molecular profiling in guiding personalized therapeutic strategies.

We report a rare case of Insulin Autoimmune Syndrome in a 35-year-old woman with prior autoimmune features who developed hypoglycemia after an allergic reaction. Diagnosis was confirmed by insulin autoantibodies. Immunosuppressive therapy yielded significant improvement. This case suggests a broader autoimmune process may underlie seemingly isolated IAS presentations.